Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
- Authors
- McCarthy, Mark I; Abecasis, GonΓ§alo R; Cardon, Lon R; Goldstein, David B; Little, Julian; Ioannidis, John P A; Hirschhorn, Joel N
- Year
- 2008
- Journal
- Nature reviews. Genetics
- PMID
- 18398418
- DOI
- 10.1038/nrg2344
The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
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| Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors. | Vigilante A et al. | β | 2019 | β |
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| A Randomized Phase 2 Study of an Anti-Amyloid Ξ² Monoclonal Antibody in Geographic Atrophy Secondary to Age-Related Macular Degeneration. | Rosenfeld PJ et al. | β | 2018 | β |
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| Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD. | Fairoozy RH et al. | β | 2016 | β |
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| The genetic architecture of alopecia areata. | Petukhova L et al. | β | 2013 | β |
| The impact of genetic variants in inflammatory-related genes on prostate cancer risk among men of African Descent: a case control study. | Jones DZ et al. | β | 2013 | β |
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